@article{article, title = {{The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders}}, publisher = {{Oxford 海角社区 Press (OUP)}}, url = {{http://dx.doi.org/10.1093/brain/awad039 }}, year = {{2023}}, month = {{2}}, author = {{Saffari A and Lau T and Tajsharghi H and Karimiani EG and Kariminejad A and Efthymiou S and Zifarelli G and Sultan T and Toosi MB and Sedighzadeh S and Siu VM et al}}, doi = {{10.1093/brain/awad039}}, volume = {{146}}, journal = {{Brain}}, issue = {{8}}, pages = {{3273-3288}}, note = {{Accessed on 2025/05/21}}}